These authors contributed equally to the article.
Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case
Article first published online: 23 AUG 2012
© 2012 American Association of Blood Banks
Volume 53, Issue 6, pages 1266–1269, June 2013
How to Cite
Ou, X., Liu, C., Chen, S., Yu, J., Zhang, Y., Liu, S. and Sun, H. (2013), Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case. Transfusion, 53: 1266–1269. doi: 10.1111/j.1537-2995.2012.03863.x
- Issue published online: 10 JUN 2013
- Article first published online: 23 AUG 2012
- Received for publication May 9, 2012; revision received July 17, 2012, and accepted July 18, 2012.
BACKGROUND: Uniparental disomy (UPD) is a rare cytogenetic event that has previously been reported mostly via genetic analysis of patients with phenotypes of recessive diseases. The incidence of UPD of any chromosome is estimated to be approximately1:3500 live births.
CASE REPORT: In a case of disputed paternity involving a phenotypically normal male child, mother–child exclusions were observed at five short tandem repeat markers, which were all located on Chromosome 2. Ten additional dinucleotide repeat markers spanning both arms of Chromosome 2 were investigated. The results revealed that the child was homozygous for all markers tested with all alleles originating from a single paternal Chromosome 2, which was consistent with paternal UPD for Chromosome 2.
CONCLUSION: This case and other previous reports demonstrate that UPD poses a high risk for false exclusion and incorrect expert opinion. Furthermore, this case highlights that a conclusion of exclusion of paternity or maternity should not be postulated if multiple genetic incompatibilities are located on the same chromosome because of the occurrence of UPD.